Frontonasal malformation with tetralogy of Fallot associated with a submicroscopic deletion of 22q11

Journal Article · Mon Mar 31 00:00:00 EST 1997 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19970331)69:3<287::AID-AJMG13>3.0.CO;2-N· OSTI ID:526001

Stratton, R F ^[1]; Payne, R M ^[2]

---

1. South Texas Genetics Center, San Antonio, TX (United States)
2. Central Texas Genetics Center, Austin, TX (United States)

We report on a 14-month-old girl with bifid nasal tip and tetralogy of Fallot. Several similar patients have been described with CNS or eye abnormalities. Chromosome analysis with FISH, using Oncor DiGeorge probes, confirmed a submicroscopic deletion of 22q11. Many patients with Shprintzen (velo-cardio-facial) syndrome have a similar deletion with conotruncal cardiac defects and an abnormal nasal shape, suggesting that a gene in this area, possibly affecting neural crest cells, influences facial and other midline development. 13 refs., 1 fig.

• OSTI ID: 526001
• Journal Information: American Journal of Medical Genetics, Vol. 69, Issue 3; Other Information: PBD: 31 Mar 1997
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
PATIENTS
HEREDITARY DISEASES
CONGENITAL MALFORMATIONS
PHENOTYPE
HUMAN CHROMOSOME 22
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
GENES
FLUORESCENCE
IN-SITU HYBRIDIZATION
PROBES